Gaucher's Disease, the most common of the lysosomal storage diseases, is named after a French doctor, Philippe Gaucher, who was the first to describe it in 1882. This disease is caused by the insufficiency of the enzyme Glucocerebrosidase. This leads to an accumulation of its substrate, which is the fatty substance Cerebroside. Cerebroside then collects in the spleen, liver, kidneys, lungs, brain, and bone marrow. In other words, this disease causes these organs to not be able to work properly. There are many symptoms for this disease, including enlarged spleen and liver, liver malfunction, and skeletal disorders. Additionally, there are bone lesions that are known to cause pain, severe neurologic complications, the swelling of lymph nodes, and in some cases, adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the sclera. Gaucher's disease affects both men and women because it shows autosomal recessive inheritence.
Gaucher's Disease on a Molecular Level
Gaucher's Disease is caused by a genetic mutation in the GBA gene. Genetic mutations occur when the wrong base pair is copied by nucleic acids when a copy of the DNA is forming. This genetic mutation causes only a small amount of a necessary enzyme, beta-glucocerebrosidase, to be produced. Since enzymes speed up a chemical reaction, a lack of an enzyme means that the substrate molecule, in this case glucocerebroside, does not change in any form. Therefore, in Gaucher's patients, the substrate remains unchanged, and builds up in the body's cells causing tissue and organ damage.
The Three Types of Gaucher's Disease
Type 1 - This is the most common form of Gaucher's. Symptoms of type 1 can appear at any time. Symptoms of this disease include fatigue caused by low blood platelets and bruise proneness. In rare cases it causes lung and kidney damage. anemia, thrombocytopenia and leukopenia are side effects. These can be caused by bone marrow replacement and an enlarged spleen. The main affects of this disease are a fragile skeleton, bone disease, enlarged liver, and enlarged spleen. This form of Gaucher's is found in 1 of 50,000 births and is the least fatal form of Gaucher's.
Type 2 - Affects of type 2 Gaucher's Disease are a weakened ability to suck and swallow, a rigidness of the limbs, seizure proneness, proneness to spasms, difficulty moving eyes, brain damage, and enlarged spleen and liver. This form of Gaucher's usually occurs in 1 in 100,000 births and is the most form of Gaucher's.
Type 3 - Type 3 Gaucher's Disease can cause numerous symptoms. These symptoms include a similar but milder neurologic distress, enlarged spleen and liver, proneness to seizures, impaired motor skills, abnormal skeleton structure, difficulty of eye control, blood disorders, and respiratory malfunctions.
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Gaucher's Disease, the most common of the lysosomal storage diseases, is named after a French doctor, Philippe Gaucher, who was the first to describe it in 1882. This disease is caused by the insufficiency of the enzyme Glucocerebrosidase. This leads to an accumulation of its substrate, which is the fatty substance Cerebroside. Cerebroside then collects in the spleen, liver, kidneys, lungs, brain, and bone marrow. In other words, this disease causes these organs to not be able to work properly. There are many symptoms for this disease, including enlarged spleen and liver, liver malfunction, and skeletal disorders. Additionally, there are bone lesions that are known to cause pain, severe neurologic complications, the swelling of lymph nodes, and in some cases, adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the sclera. Gaucher's disease affects both men and women because it shows autosomal recessive inheritence.
Gaucher's Disease on a Molecular Level
Gaucher's Disease is caused by a genetic mutation in the GBA gene. Genetic mutations occur when the wrong base pair is copied by nucleic acids when a copy of the DNA is forming. This genetic mutation causes only a small amount of a necessary enzyme, beta-glucocerebrosidase, to be produced. Since enzymes speed up a chemical reaction, a lack of an enzyme means that the substrate molecule, in this case glucocerebroside, does not change in any form. Therefore, in Gaucher's patients, the substrate remains unchanged, and builds up in the body's cells causing tissue and organ damage.The Three Types of Gaucher's Disease
- Type 1 - This is the most common form of Gaucher's. Symptoms of type 1 can appear at any time. Symptoms of this disease include fatigue caused by low blood platelets and bruise proneness. In rare cases it causes lung and kidney damage. anemia, thrombocytopenia and leukopenia are side effects. These can be caused by bone marrow replacement and an enlarged spleen. The main affects of this disease are a fragile skeleton, bone disease, enlarged liver, and enlarged spleen. This form of Gaucher's is found in 1 of 50,000 births and is the least fatal form of Gaucher's.
- Type 2 - Affects of type 2 Gaucher's Disease are a weakened ability to suck and swallow, a rigidness of the limbs, seizure proneness, proneness to spasms, difficulty moving eyes, brain damage, and enlarged spleen and liver. This form of Gaucher's usually occurs in 1 in 100,000 births and is the most form of Gaucher's.
- Type 3 - Type 3 Gaucher's Disease can cause numerous symptoms. These symptoms include a similar but milder neurologic distress, enlarged spleen and liver, proneness to seizures, impaired motor skills, abnormal skeleton structure, difficulty of eye control, blood disorders, and respiratory malfunctions.
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